Canonical Allele Identifier: CA2577185130
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988649T>A , CM000664.2:g.188988649T>A GRCh38
NC_000002.11:g.189853375T>A , CM000664.1:g.189853375T>A GRCh37
NC_000002.10:g.189561620T>A NCBI36
NG_007404.1:g.19277T>A , LRG_3:g.19277T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.636+6T>A ENSP00000415346.2:n.636+6T>A
ENST00000304636.9:c.636+6T>A MANE Select ENSP00000304408.4:n.636+6T>A
ENST00000304636.7:c.636+6T>A ENSP00000304408.3:n.636+6T>A
ENST00000317840.9:c.636+6T>A ENSP00000315243.6:n.636+6T>A
NM_000090.3:c.636+6T>A , LRG_3t1:c.636+6T>A NP_000081.1:n.636+6T>A
NM_000090.4:c.636+6T>A MANE Select NP_000081.2:n.636+6T>A